CYBA, cytochrome b-245 alpha chain, 1535

N. diseases: 177; N. variants: 23
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894510
rs104894510
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs104894513
rs104894513
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs104894514
rs104894514
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs104894515
rs104894515
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs179363892
rs179363892
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs28941476
rs28941476
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 23910690 2013
dbSNP: rs28941476
rs28941476
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
T 0.800 CausalMutation CLINVAR Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease. 19292887 2009
dbSNP: rs104894510
rs104894510
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. 18422995 2008
dbSNP: rs104894513
rs104894513
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. 18422995 2008
dbSNP: rs104894514
rs104894514
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. 18422995 2008
dbSNP: rs104894515
rs104894515
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. 18422995 2008
dbSNP: rs179363892
rs179363892
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. 18422995 2008
dbSNP: rs28941476
rs28941476
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. 18422995 2008
dbSNP: rs104894510
rs104894510
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox). 10910929 2000
dbSNP: rs104894510
rs104894510
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients. 10759707 2000
dbSNP: rs104894510
rs104894510
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency. 10914676 2000
dbSNP: rs104894513
rs104894513
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients. 10759707 2000
dbSNP: rs104894513
rs104894513
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency. 10914676 2000
dbSNP: rs104894513
rs104894513
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox). 10910929 2000
dbSNP: rs104894514
rs104894514
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency. 10914676 2000
dbSNP: rs104894514
rs104894514
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients. 10759707 2000
dbSNP: rs104894514
rs104894514
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox). 10910929 2000
dbSNP: rs104894515
rs104894515
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency. 10914676 2000
dbSNP: rs104894515
rs104894515
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox). 10910929 2000
dbSNP: rs104894515
rs104894515
Entrez Id: 1535
Gene Symbol: CYBA
CYBA
CUI: C1856255
Disease:
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative
0.800 GeneticVariation UNIPROT Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients. 10759707 2000